Abstract:
:Recent advances in genome analysis have provided important insights into the genetic architecture of infectious and inflammatory diseases. The combined analysis of loci detected by genome-wide association studies (GWAS) in 22 inflammatory diseases has revealed a shared genetic core and associated biochemical pathways that play a central role in pathological inflammation. Parallel whole-exome sequencing studies have identified 265 genes mutated in primary immunodeficiencies (PID). Here, we examine the overlap between these two data sets, and find that it consists of genes essential for protection against infections and in which persistent activation causes pathological inflammation. Based on this intersection, we propose that, although strong or inactivating mutations (rare variants) in these genes may cause severe disease (PIDs), their more subtle modulation potentially by common regulatory/coding variants may contribute to chronic inflammation.
journal_name
Trends Immunoljournal_title
Trends in immunologyauthors
Fodil N,Langlais D,Gros Pdoi
10.1016/j.it.2015.12.006subject
Has Abstractpub_date
2016-02-01 00:00:00pages
126-140issue
2eissn
1471-4906issn
1471-4981pii
S1471-4906(15)00303-8journal_volume
37pub_type
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